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  2. pubmed-ncbi-nlm-nih-gov.proxy1.lib.uwo.ca pubmed-ncbi-nlm-nih-gov.proxy1.lib.uwo.ca
    Identification of two sporadically derived mutations in the Von Hippel-Lindau gene
    1
    1. ClingenBaseline 28 Oct 2026

      PatientID: W

      KindredID: 2

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: Parents unavailable for testing. No prior family history of VHL.

      CasePresentingHPOs: HP:0010797, HP:0005584 (hemangioblastoma, renal cell carcinoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0009711, HP:0002894, HP:0002666 (retinal capillary hemangioma, neoplasm of the pancreas, pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.464-1G>A

      LegacyVariant: c.677-1G>A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 43603 https://www.ncbi.nlm.nih.gov/clinvar/variation/43603/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: c.464-1G>A

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:AF010238.1 NonFamilial DiseaseEntity:AssumedVHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma cDNAposition:464 ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:43603 ClinVarID:Yes MutationType:splice_site_variant CivicName:c.464-1G>A inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed-ncbi-nlm-nih-gov.proxy1.lib.uwo.ca/8829648/